ClinVar Miner

List of variants in gene CERT1 reported as pathogenic for Intellectual disability, autosomal dominant 34

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
CERT1, GLY243ARG
CERT1, SER135PRO
CERT1, SER138CYS
CERT1, THR166ALA
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu)	rs1064794019

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